The study of the genetic background of complex traits and diseases is of great
interest due to its contribution to the understanding of the underlying related biological
mechanisms. Here, we traced disease variants from the ClinVar database in
2,504 healthy individuals of the 1000 Genomes Projects. Interestingly, we identified
1.690 variants to be present. Our goal was to investigate their presence in healthy
individuals; to trace their origin and course among populations and unravel their
impact in the genotype. Thus, we implemented Population Genetics methodologies
on haplotypes carrying the disease allele, clarifying the genetic variation within
those haplotypes and detecting negative selection and demographic model for those
haplotypes. We noticed that none of those are located in sex chromosomes. We could
not identify any general pattern of population stratification since some patterns imply
isolated populations and some mixed, with varying measurements of genotypic
differentiation. Moreover, we identified 111 genomic regions in the neighborhood
of pathogenic alleles indicating to be under positive selection. Though, there was
no correlation between frequency within the healthy individuals and those selection
events. Our study identifies specific population patterns of the variants’ haplotypes
and supports the aspect of misclassification of variants in ClinVar database.